Neonatal cholestasis
Gene: ABCB11EnsemblGeneIds (GRCh38): ENSG00000073734
EnsemblGeneIds (GRCh37): ENSG00000073734
OMIM: 603201, Gene2Phenotype
ABCB11 is in 8 panels
2 reviews
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
progressive familial intrahepatic cholestasis; benign intrahepatic cholestasis; intrahepatic cholestasis in pregnancy; cholestasis; modifier in other cholestatic conditions
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
LOF variants cause disease; but also missense variants cause diseaseCreated: 1 Jun 2018, 12:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; PFIC2
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Neonatal and Adult Cholestasis
- Cholestasis, benign recurrent intrahepatic, 2, 605479
- Cholestasis, progressive familial intrahepatic 2, 601847
- Cholestasis, Progressive Familial Intrahepatic 2
- Familial Intrahepatic Cholestasis
- PFIC2
- OMIM
- 603201
- Clinvar variants
- Variants in ABCB11
- Penetrance
- None
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: abcb11 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: ABCB11 were set to Neonatal and Adult Cholestasis; Cholestasis, benign recurrent intrahepatic, 2, 605479; Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, Progressive Familial Intrahepatic 2; Familial Intrahepatic Cholestasis; PFIC2
Set mode of pathogenicity
Louise Daugherty (Genomics England Curator)Mode of pathogenicity for gene: ABCB11 was changed to Other - please provide details in the comments
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to ABCB11. Panel: Cholestasis
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Illumina TruGenome Clinical Sequencing Services was added to ABCB11. Panel: Cholestasis Phenotypes for gene ABCB11 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 2, 605479, Cholestasis, progressive familial intrahepatic 2, 601847, Cholestasis, Progressive Familial Intrahepatic 2, Familial Intrahepatic Cholestasis
Added New Source, Set mode of inheritance, Set penetrance
Ellen McDonagh (Genomics England Curator)UKGTN was added to ABCB11. Panel: Cholestasis Model of inheritance for gene ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene ABCB11 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 2, 605479, Cholestasis, progressive familial intrahepatic 2, 601847, Cholestasis, Progressive Familial Intrahepatic 2
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Radboud University Medical Center, Nijmegen was added to ABCB11. Panel: Cholestasis Phenotypes for gene ABCB11 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 2, 605479, Cholestasis, progressive familial intrahepatic 2, 601847
Added New Source
Ellen McDonagh (Genomics England Curator)ABCB11 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)ABCB11 was created by Ellen McDonagh